rs121909369

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs121909369(G;G)

Make rs121909369(G;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42699902

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909369
dbSNP (classic)	rs121909369
ClinGen	rs121909369
ebi	rs121909369
HLI	rs121909369
Exac	rs121909369
Gnomad	rs121909369
Varsome	rs121909369
LitVar	rs121909369
Map	rs121909369
PheGenI	rs121909369
Biobank	rs121909369
1000 genomes	rs121909369
hgdp	rs121909369
ensembl	rs121909369
geneview	rs121909369
scholar	rs121909369
google	rs121909369
pharmgkb	rs121909369
gwascentral	rs121909369
openSNP	rs121909369
23andMe	rs121909369
SNPshot	rs121909369
SNPdbe	rs121909369
MSV3d	rs121909369
GWAS Ctlg	rs121909369

Max Magnitude

0

OMIM	600946
Desc
Variant	0024
Related	also

ClinVar
Risk	rs121909369(A;A) rs121909369(G;G)
Alt	rs121909369(A;A) rs121909369(G;G)
Reference	Rs121909369(T;T)
Significance	Pathogenic
Disease	Laron-type isolated somatotropin defect
Variation	info
Gene	GHR
CLNDBN	Laron-type isolated somatotropin defect
Reversed	0
HGVS	NC_000005.9:g.42700004T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009180.4,